L5F (p.Leu5Phe) variant of PLAU (P00749)
L5F (p.Leu5Phe) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
L5F (p.Leu5Phe) variant details
- p.Leu5Phe
- rs2096125170
- gnomAD 10-73911906-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.06
- CADD 13.00
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available